A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670771



Internal ID9590190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:594969..596531hg38UCSC Ensembl
chr6:594969..596531hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg381563
hg191563
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5931360, essv5712829, essv6086850, essv5575541, essv6535246, essv6037603, essv5527713, essv6265691, essv5626715
SamplesNA18517, NA18505, NA19438, NA19213, NA19372, NA19707, NA19235, NA19431, NA19160
Known GenesEXOC2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670771
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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